BOSTON and BIRMINGHAM, England, April 9, 2013 /PRNewswire/ -- Cartagenia, the world leader in providing genetic labs and clinicians software-based workflow support for variant assessment, lab reporting, and integration of diagnostic knowledge-bases, announced today that it has signed a license agreement for its cloud-based BENCHlab CNV solution for genetic variant storage and analysis with West Midlands Regional Genetics Laboratory (WMRGL) at Birmingham Women's Hospital NHS Foundation Trust (BWHFT).

WMRGL is the first UK-based lab to license the Cartagenia BENCHlab CNV platform, a software and database solution created in collaboration with genetics labs and clinical experts to automate and speed up testing practices and develop high-quality lab reports. For WMRGL, the Cartagenia solution will support the storage, filtration, analysis and interpretation of CNV data produced by the laboratories' pre- and post-natal testing services. The BENCHlab solutions can also handle NGS data generated as gene panels, exomes and whole genomes and can automatically generate clinical reports specific to a laboratory's needs.

The Cartagenia BENCHlab platform will also help link clinical and phenotypic data from the Fetal Medicine Centre at BWHFT with genetic data generated at WMRGL for submission into the UK EACH (Evaluation of Array Comparative Genomic Hybridisation in Prenatal Diagnosis of Fetal Anomalies) research project, a three-year national, multi-center study designed to assess how array CGH testing (also known as chromosomal microarray analysis) compares to traditional karyotyping in prenatal diagnosis in terms of detecting chromosomal imbalances in fetuses. The EACH project is built on another Cartagenia product, BENCHlab Consortium, a solution for multi-center genotype and phenotype data aggregation projects.

Additionally, Cartagenia is working with WMRGL and several other centres in the UK's National Health Service (NHS) to create a pilot national CNV database in which UK-based diagnostic labs can optimally pool and share their genetic information. As envisioned, that database will ultimately be linked to the International Collaboration of Clinical Genetics (formerly ISCA), an even larger pool of research consortia.

"We are a very large lab with a Regional Genetics Service serving a population of nearly 6 million people, and the Cartagenia BENCHlab product is the perfect tool for us to add quality and consistency to our data collection and analytical needs," said Dom McMullan, Principal Clinical Scientist at WMRGL. "BENCHlab is an attractive option because it's platform neutral, with very robust and adaptable filtering options, allowing us to more easily manage, collect and store various types of microarray data. BENCHlab will provide us a more consistent output and aid us in bringing consistency to our analyses."

Cartagenia CEO Herman Verrelst noted that working with BWHFT and WMRGL provides Cartagenia an important entrance to the UK market as well as the UK EACH research project.

"We are very pleased to have our BENCHlab tool serving such a respected and important lab as the WMRGL," Verrelst said. "We believe partnering with WMRGL in the piloting of a national UK-based CNV database will prove that our BENCHlab platform is the perfect collaborative tool that allows labs to pool and share information and improve the quality of the data and diagnostic yield of their efforts. Furthermore, this database could serve as a cornerstone in our effort to market to other genetics labs in the UK and in Europe as well as help create a network to provide and promote better patient care."

About BWHFT and WMRGL

BWHFT provides a range of healthcare services to women and men across the West Midlands and beyond. Services include maternity, gynecology, fetal medicine, neonatal intensive care, genetics, radiology, specialist pathology and fertility medicine. WMRGL provides fully comprehensive germline and cancer genetic diagnostic programme services with a strong research and development component to a population of nearly 6 million and is the largest NHS diagnostic laboratory in the UK.

The Cartagenia BENCH platform is built in collaboration with genetics labs and clinical experts involved in routine medical practice. Because of this, BENCHlab CNV addresses the specific needs of genetic diagnostic labs and clinicians.

Cartagenia BENCHlab CNV is built using a certified ISO13485 Quality Management System and is marketed as an FDA regulated Class I Medical Device in the United States and as a Class I Medical Device in Europe in conformity with the essential requirements and provisions of the Council Directive 93/42/EEC concerning medical devices, and with the relevant harmonized standards EN ISO62304.